Results 1 to 10 of about 2,278 (204)

ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods. [PDF]

Neuropathol Appl Neurobiol
We report a patient with an adult‐onset, slowly progressive, ACTA1‐related scapuloperoneal myopathy with cores and rods, determined by the heterozygous variant NM_001100.4:c.1001C > T, p.(Pro334Leu). The scapuloperoneal phenotype could represent a distinct subcategory, and the characterisation of this patient with a less severe, different clinical ...
Caramizaru A, Onnée M, Nikitin S, Dobrescu A, Severa G, Murtazina A, Urtizberea A, Lefaucheur JP, Carlier RY, Metay C, Malfatti E.   +10 more
europepmc   +2 more sources

Concurrent Sporadic Late-Onset Nemaline Myopathy and an Excessive Glycogen Accumulation Associated With Monoclonal Gammopathy. [PDF]

Eur J Neurol
ABSTRACT Background Monoclonal gammopathy‐associated myopathies (MGAMs) include light chain (AL) amyloid myopathy, sporadic late‐onset nemaline myopathy (SLONM), and vacuolar myopathy with monoclonal gammopathy and stiffness (VAMMGAS). These subtypes usually occur separately, although rare overlap has been described. We report a patient with monoclonal
Jones FJS, Cheema I, Laughlin RS, Muchtar E, Liewluck T.   +4 more
europepmc   +2 more sources

Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western Sweden. [PDF]

Ann Neurol
Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Michael E, Hedberg-Oldfors C, Tulinius M, Nordström S, Oldfors A, Darin N.   +5 more
europepmc   +2 more sources

Phenotypes of Myopathy-related Actin Mutants in differentiated C2C12 Myotubes [PDF]

BMC Cell Biology, 2007
Background About 20 % of nemaline myopathies are thus far related to skeletal muscle alpha-actin. Seven actin mutants located in different parts of the actin molecule and linked to different forms of the disease were selected and expressed as EGFP-tagged
Machesky Laura M, Rommelaere Heidi, Bathe Friederike S   +2 more
doaj   +5 more sources

In Memoriam: W. King Engel, MD (1930–2025) [PDF]

Ann Neurol
Annals of Neurology, Volume 99, Issue 3, Page 563-565, March 2026.
Dalakas M, Ringel S.
europepmc   +2 more sources

Muscle magnetic resonance imaging involvement patterns in nemaline myopathies [PDF]

Annals of Clinical and Translational Neurology, 2023
Objective Characterise the diagnostic and prognostic value of muscle MRI patterns as biomarkers in a genetically heterogeneous nemaline myopathy (NM) patient cohort.
Luke Perry, Georgia Stimpson, Leeha Singh, Jasper M. Morrow, Sachit Shah, Giovanni Baranello, Francesco Muntoni, Anna Sarkozy   +7 more
doaj   +2 more sources

OXPHOS complex deficiency in congenital myopathy: A systematic review. [PDF]

Eur J Clin Invest
This systematic review assessed oxidative phosphorylation (OXPHOS) complex dysfunction in genetically confirmed congenital myopathies (CM). Among 5841 studies screened, 23 publications, comprising 45 CM cases, met the inclusion criteria. OXPHOS dysfunction was identified in 78% of cases, particularly where enzymology was performed, with RYR1 most ...
du Preez MJ, Schoonen M, Williams ME, Bisschoff M, van der Westhuizen FH.   +4 more
europepmc   +2 more sources

Shoulder Rotation Test: A New Test for Discriminating Between Functional and Structural Weakness. [PDF]

Brain Behav
We introduce the shoulder rotation test, a simple bedside test combining the MRC scoring of shoulder internal rotation (IR) and external rotation (ER), for discriminating between functional weakness (FW) and structural weakness (SW) of the upper limbs.
Kanbayashi T, Sonoo M.
europepmc   +2 more sources

Monoclonal gammopathy of undetermined significance with associated necrotizing myopathy: a case report and review of the literature [PDF]

European Journal of Case Reports in Internal Medicine
Background: Monoclonal gammopathies encompass many types of plasma cell proliferative disorders ranging from benign to malignant. Monoclonal gammopathies that meet diagnostic criteria for monoclonal gammopathies of undetermined significance (MGUS) but ...
Anna Bode, Oscar Borja Montes, Karen SantaCruz, Abu Baker Sheikh   +3 more
doaj   +2 more sources

Genetic and Structural Variations in Czech Patients With Congenital Myopathies. [PDF]

Clin Genet
We present 79 unrelated patients with genetically confirmed congenital myopathy (CM). A total of 113 mutant alleles carrying 97 different variants with a presumed pathogenic effect were identified. All but five variants were small scale. The mode of inheritance was autosomal dominant (AD) (44.3%), autosomal recessive (AR) (43.0%), and X‐linked (XL) (12.
Zídková J, Lauerová B, Mensová L, Kramářová T, Kopčilová J, Réblová K, Soukup Vodičková M, Hujňáková M, Haberlová J, Rohlenová M, Mazanec R, Šoukalová J, Gaillyová R, Vyhnálková E, Balaščaková M, Danhofer P, Juříková L, Grečmalová D, Gřegořová A, Plevová P, Langová M, Honzík T, Magner M, Klincová M, Solařová P, Šenkeříková M, Fajkusová L.   +26 more
europepmc   +2 more sources